Annie Jojo

Oncogenic osteomalacia from nasal cavity giant cell tumor

Oncogenic osteomalacia is a rare paraneoplastic syndrome characterized by osteomalacia, which occurs as a result of excess renal phosphate excretion caused by fibroblast growth factor–23 secreted by mesenchymal tumors. This entity is rare in head and neck cancers. We report a rare case of oncogenic osteomalacia in a patient with an anterior skull base giant cell tumor.

Neuroendocrine tumor of vulva: a case report and review of literature.

Neuroendocrine tumor (Merkel cell carcinoma-MCC) of the vulva is a very rare entity with less than 15 cases reported in the English literature. It is known for its aggressive behaviour and propensity for early dissemination. The actual cell of origin and etiology of this disease is controversial. In absence of any definite guidelines for management (due to its rarity), extrapolation of data from extra-vulvar MCC seems logical. We present a case of vulvar neuroendocrine tumor who presented at a locally advanced stage.

Primary chondrosarcoma of the heart

Primary cardiac chondrosarcoma is extremely rare with very few cases reported in the literature. Most cardiac chondrosarcomas described in the literature are secondary. We report herein a case of 22-year-old man who presented with easy fatigability, which the general practitioner diagnosed as mitral stenosis clinically. Echocardiography showed left atrial mass, possibly myxoma. The histopathology of the excised mass revealed mesenchymal chondrosarcoma, confirmed by immunohistochemistry. Clinical and radiological studies did not reveal any other neoplasm.

Autochthonous Blastomycosis of the Adrenal: First Case Report from Asia

Systemic endemic mycoses, such as blastomycosis, are rare in Asia and have been reported as health risks among travelers who visit or reside in an endemic area. Adrenal involvement is rarely seen in blastomycosis and has never been reported from Asia. We report the first case of blastomycosis with bilateral involvement of the adrenals in a diabetic patient residing in the state of Arunachal Pradesh, India.

Sirenomelia: Case Reports and Current Concepts of Pathogenesis

We present 2 cases of sirenomelia and highlight the recent theories about its pathogenesis. Both cases had a large aberrant abdominal umbilical artery (AAUA) arising from the aorta, suggesting vascular steal as the pathophysiology. However, the bilateral upper limb defects noted in 1 case, the reported 10% association of holoprosencephaly and anencephaly, and the reports of sirenomelia with normal umbilical arteries point to the alternative caudal dysgenesis (CD) theory. This proposes that an insult at the early blastogenic stage interferes with the formation of the notochord, resulting in abnormal development of caudal structures, an AAUA, and occasional neural tube defects. We have also analyzed the implications of the similarities between sirenomelia/CD and the VATER association; the increased risk of CD but not sirenomelia in infants of diabetic mothers; the fact that sirenomelia, holoprosencephaly, and the VATER association are all more common in monozygotic twins; the experimental production of sirenomelia in mice; and the possible genetic implications of the co-occurrence of sirenomelia and CD.

A case series on Averrhoa bilimbi induced acute oxalate nephropathy;an experience from a tertiary center in Kerala, India

Background: Averrhoa bilimbi is a commonly used fruit in South India for various home preparations and as a traditional remedy for hypercholesterolemia and hypertension. As it belongs to Oxalidaceae family, fruit has high oxalate content, causing calcium oxalate crystal deposition in renal tubules, resulting in acute oxalate nephropathy (AON) when consumed in large quantities. Case Series: We present a series of 24 patients from 11 hospitals in the State of Kerala who developed acute renal failure after some days of intake of Irumban puli fruit juice. Seven patients needed hemodialysis while the other three improved with conservative management. Conclusions: We conclude that it is not safe to consume high oxalate containing fruits, especially in concentrated forms, that too in large quantities.

Plexiform Neurofibroma of Clitoris

The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.

Renal cell carcinoma with Xp11.2 translocation/TFE3 gene fusions -experience from a tertiary care hospital in Kerala, India

Abstract Renal cell Carcinoma (RCC) with Xp11.2 translocation/TFE3 (Transcription factor E3) gene fusions comprise at least one-third of the cases of pediatric RCC. The significance of identifying these cases is that, VEGFR (Vascular

Pancreatic botryomycosis caused by viridans streptococci: A case report

Botryomycosis is a chronic suppurative granulomatous disease of the skin viscera. It is known to mimic diseases such as actinomycosis and invasive carcinoma. Visceral botryomycosis is a rare entity compared with its cutaneous counterpart. It can be identified using staining techniques such as Gomori methenamine silver, periodic acid-Schiff Gram stain, histopathological examination, and aerobic culture of the lesion. Splendore-Hoeppli phenomenon is a characteristic feature of this disease. It responds to prolonged treatment with beta-lactams and surgery .There have been very few case reports on visceral botryomycosis across the world. We report a case of pancreatic botryomycosis caused by viridans streptococci in a patient with chronic calcific pancreatitis who was presumptively diagnosed as having carcinoma of the head of the pancreas.

Diagnosis of carcinomas of extrathyroidal origin with fine needle aspiration cytology of the thyroid: An experience from a tertiary care center in South India

Intrathyroidal metastasis and direct extension of extrathyroidal malignancies can present with palpable thyroid nodules or may be detected as suspicious nodules in a thyroid scan. They can lead to diagnostic difficulty in fine needle aspiration cytology (FNAC) of the thyroid, especially in the absence of any previous history of such malignancies. Here we report an interesting case of intrathyroidal metastasis, which was initially suspected as a primary carcinoma of the thyroid; along with a short summary of a series of 11 cases of carcinomas of extrathyroidal origin, diagnosed in the FNACs of thyroid over the past three years in our institute. Knowledge of the potential diagnostic pitfalls in thyroid FNAC, a proper clinical evaluation, and judicious use of the ancillary techniques will help to attain a proper diagnosis.